Genomic profiling informs diagnoses and treatment in vascular anomalies
-
Published:2023-06
Issue:6
Volume:29
Page:1530-1539
-
ISSN:1078-8956
-
Container-title:Nature Medicine
-
language:en
-
Short-container-title:Nat Med
Author:
Li DongORCID, Sheppard Sarah E.ORCID, March Michael E., Battig Mark R., Surrey Lea F.ORCID, Srinivasan Abhay S.ORCID, Matsuoka Leticia S., Tian Lifeng, Wang Fengxiang, Seiler Christoph, Dayneka JillORCID, Borst Alexandra J.ORCID, Matos Mary C., Paulissen Scott M.ORCID, Krishnamurthy Ganesh, Nriagu BedeORCID, Sikder Tamjeed, Casey Melissa, Williams LydiaORCID, Rangu Sneha, O’Connor Nora, Thomas Alexandria, Pinto Erin, Hou Cuiping, Nguyen Kenny, Pellegrino da Silva Renata, Chehimi Samar N., Kao Charlly, Biroc Lauren, Britt Allison D.ORCID, Queenan Maria, Reid Janet R.ORCID, Napoli Joseph A., Low David M., Vatsky Seth, Treat James, Smith Christopher L., Cahill Anne Marie, Snyder Kristen M., Adams Denise M., Dori YoavORCID, Hakonarson HakonORCID
Funder
U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference47 articles.
1. Makinen, T., Boon, L. M., Vikkula, M. & Alitalo, K. Lymphatic malformations: genetics, mechanisms and therapeutic strategies. Circ. Res. 129, 136–154 (2021). 2. Queisser, A., Seront, E., Boon, L. M. & Vikkula, M. Genetic basis and therapies for vascular anomalies. Circ. Res. 129, 155–173 (2021). 3. Wassef, M. et al. Vascular anomalies classification: recommendations from the international society for the study of vascular anomalies. Pediatrics 136, e203–e214 (2015). 4. Li, D. et al. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. Nat. Med. 25, 1116–1122 (2019). 5. Adams, D. M. et al. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies. Pediatrics 137, e20153257 (2016).
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|